Key result
Myocardial injury linked to ~139% higher risk of VA and heart failure in pathogenic DSP variants.
Cohort (n=800)
Yes
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Patients with pathogenic desmoplakin variants have a distinct cardiomyopathy phenotype with high rates of sustained ventricular arrhythmias and heart failure hospitalizations, predicted by prior arrhythmias, LVEF ≤ 50%, and myocardial injury events.
Gasperetti et al. (2024) conducted a cohort in Pathogenic/likely pathogenic (P/LP) DSP variants (DSP cardiomyopathy) (n=800). Pathogenic/likely pathogenic (P/LP) DSP variants was evaluated on Development of sustained ventricular arrhythmias and heart failure hospitalizations. In patients with pathogenic DSP variants, sustained ventricular arrhythmias (17.4%) and heart failure (9.0%) occurred frequently over 3.7 years, with risk increased by myocardial injury (HR 2.394).
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